Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.

Abstract

Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of type… (More)

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@article{Darling1999RevertantMP, title={Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.}, author={Thomas N Darling and Cassian Yee and Jochen Bauer and Hartwig Hintner and Kim B. Yancey}, journal={The Journal of clinical investigation}, year={1999}, volume={103 10}, pages={1371-7} }